N21D (p.Asn21Asp) variant of ABCB1 (ATP-dependent translocase ABCB1)
N21D (p.Asn21Asp) in ABCB1 (ATP-dependent translocase ABCB1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign; drug response in the context of Tramadol response; ABCB1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
N21D (p.Asn21Asp) variant details
- p.Asn21Asp
- rs9282564
- ClinGen CA4328712
- cosmic curated COSV55944
- ClinVar RCV001029248
- Likely benign; drug response
- Tramadol response; ABCB1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0728
- CADD 1.04
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Likely benign; drug response (Tramadol response; ABCB1-related disorder)
- EBI: Likely benign (in dbSNP:rs9282564)
- UniProt: Likely benign (in dbSNP:rs9282564)
- Most common in the HGDP:RUSSIAN population (allele frequency 0.24)
- Structural context available
- Cited in: Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one… (PMID 10716719)
- Cited in: A new polymorphism (N21D) in the exon 2 of the human MDR1 gene encoding the P-glycoprotein. (PMID 10790226)